Canonical Allele Identifier: CA2724511655

Gene: PYGM

Linked Data

• dbSNP Id: rs2135840535

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758519del , CM000673.2:g.64758519del	GRCh38
NC_000011.9:g.64525991del , CM000673.1:g.64525991del	GRCh37
NC_000011.8:g.64282567del	NCBI36
NG_013018.1:g.7198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.346-3del MANE Select	ENSP00000164139.3:n.346-3del
ENST00000164139.3:c.346-3del	ENSP00000164139.3:n.346-3del
ENST00000377432.7:c.244-252del	ENSP00000366650.3:n.244-252del
NM_001164716.1:c.244-252del	NP_001158188.1:n.244-252del
NM_005609.2:c.346-3del	NP_005600.1:n.346-3del
NM_005609.3:c.346-3del	NP_005600.1:n.346-3del
NM_005609.4:c.346-3del MANE Select	NP_005600.1:n.346-3del